Many pediatricians and obstetricians lack the experience to diagnose and care for skeletal dysplasias. That's why more than 250 short-statured children from around the globe come to Nemours/Alfred I. duPont Hospital for Children each year. Here, they get recommendations from leading experts at a world-class, state-of-the-art facility that treats children with skeletal dysplasia from both a genetic and orthopedic perspective.

Only about a half-dozen clinics in the country treat children with skeletal dysplasia. At duPont Hospital for Children, our reputation for diagnosing and treating even the toughest cases has made us a favorite among families. Parents tout our program in online forums for families of little people, our physicians frequently appear as experts in the media, and our patients come from all over the globe to see us.

Here you’ll find doctors, counselors, nurses, and staff who are uniquely qualified and share a strong commitment to the long-term health and well-being of your child. As a team, we work together to maximize your child’s mobility, correct deformity, and prevent future complications. If your child has complex medical and surgical needs, we have the experienced health professionals and well-equipped facilities to meet them.

The Skeletal Dysplasia Appointment Process

Your child’s initial visit to our Skeletal Dysplasia Program usually begins with a diagnostic visit through our Genetics division and our world-renowned Genetics expert in skeletal dysplasia, Dr. Michael Bober. These visits are quite comprehensive and can take 1-2 hours to complete. They’re also often coordinated with the Department of Orthopedics, headed by the equally world-renowned Dr. William Mackenzie, an Orthopedics expert in skeletal dysplasia.

During your visit, we’ll:

obtain a thorough medical history and a three-generation family
medical history

biochemical tests: which measure the amount or activity of a particular enzyme or protein in a sample of blood or urine or other tissue

molecular tests: which assess biological makeup at the genetic level to confirm a child’s clinical diagnosis, and may help provide information as to which treatment options would be the most effective in certain individuals

To make a specific skeletal dysplasia diagnosis in an individual child, we look at all of the data we gather as a whole. We can often make a diagnosis in our initial evaluation. But some skeletal dysplasias can take time to diagnose, so we may need to do another comprehensive evaluation.

Your Coordinated Skeletal Dysplasia Care Team

It's important to know that skeletal dysplasias can evolve and change with time. Once we’ve diagnosed a specific type, we’ll tailor the treatment and management strategies to meet the needs of your child and your family. Some children require appointments with a number of specialists from different departments and multiple surgical procedures.

To make this process a little easier for you and your child, we’ll try to coordinate these appointments and make them as convenient as we can. And, to help make your child’s medical or surgical experience as comfortable as possible, we’ll also provide emotional and psychosocial support and genetic counseling services.

In the Genetics clinic, we follow children at approximately six-month intervals until 6 years old. Then visits are typically spaced yearly. Orthopedics will make follow-up determinations based upon the most recent evaluation.

We understand that arranging travel and multiple appointments can be difficult, so we structure our program so that your family can come and see our physicians and any other specialists here, all on a single day.

Making You Feel Welcome

One of the things parents appreciate most about our skeletal dysplasia care is our location at duPont Hospital for Children — located amid a beautiful park-like setting of huge oaks and inviting green lawns.